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New Book, “Run to the Light,” Chronicles a Journey with Batten Disease

On November 1, Laura King Edwards’s inspiring book “Run To The Light” will be published, by Bedazzled Ink.

The memoir is an astonishing tale of a sister’s love and how she is coping with a tragic and inevitable future for her younger sibling. It’s also the tale of how one family’s activism has led to a gene therapy in development to treat Taylor’s inherited neurological condition.

The book is also about running – blindfolded.

“Run to the Light” sets up the story in just the second sentence: “We found out my little sister was dying on a parched morning in the summer of 2006, just a few weeks shy of her eighth birthday and a month after my wedding.”

Laura and Taylor

A Rare Form of a Rare Inherited Disease

The words “neuronal ceroid lipofuscinosis” came as an unfathomable shock when Laura’s mother Sharon called her with the news.

“I typed the unfamiliar phrase into Google with trembling fingers and crumpled into my desk chair as I read the results. Words and phrases shot off the screen and straight into my vulnerable flesh like icy daggers, each one more awful than the last.

Until that moment, the worst-case scenario for Taylor had been retinitis pigmentosa.

Taylor’s arrival in 1998 had come as a surprise.

“I was sixteen and hadn’t wanted anything to do with a new baby. I had my own agenda, and it didn’t include my mother getting pregnant,” Laura writes. She’d been tying the laces on her cleats at soccer practice, 11th grade just getting underway, when her father called with the news that Taylor had been born.

Laura’s boyfriend (and now husband) John loved the tiny blonde beauty instantly, but it would take until the next summer, when Laura took over Taylor’s care so their mom Sharon could return to work, that she fell in love too. “And without warning, one afternoon during the credits of a Disney movie, I fell in love.” By the time Laura had to leave for college, she no longer wanted to go.

Taylor was smart! She taught herself to read by age three. By first grade, she was having difficulty understanding numbers, but that hardly seemed worrisome. “There were signs of the secret hiding in Taylor’s genes even then, but they were too complex and too twisted for any of us to understand,” Laura writes.

Visual challenges emerged gradually. A key moment was at the state fair, in fall 2005, when the family navigated down a shaded, narrow stairway leading out of a snack shack. Taylor froze. And everyone realized she couldn’t see very well in the shadows. A little later, when the little girl began moving her head when watching TV or talking to someone, so that she could see from the periphery of her visual field, her parents took her to an eye doctor.

Finally, the combination of declining vision, “nonverbal learning disorder,” and poor math skills alerted an astute physician, who sent Taylor for genetic testing. And so began the diagnostic odyssey.

Taylor had inherited the infantile form of Batten disease, aka neuronal ceroid lipofuscinosis or CLN1. “Infantile” is a dated and meaningless term – Taylor was hardly an infant when symptoms began. Most children with that form don’t live to see their sixth birthday because their cells don’t make an enzyme, palmitoyl-protein thioesterase-1, or PPT1. Taylor’s cells make about 2 percent of the normal output, which “has delayed the buildup of gunk in her cells. She’s rare among the rare,” Laura says. Batten disease in its various guises causes enzymatic roadblocks in the lysosomes, the cellular garbage disposals.

Coping

Taylor fought the disease at every turn. She learned braille and memorized the feel of the hallways of her school. She joined her friends in talent shows at school. And with a guide, she ran two 5K races. Her family knew what was to come: increasing difficulty moving around safely, seizures, blindness, personality and behavior changes and eventually loss of the ability to communicate. Her loved ones would learn to focus on her remaining senses: touch, hearing, taste, and smell.

A hippo, Laura, and Taylor

But Taylor’s family never burdened her with knowing what was ahead. Instead, they concentrated on what she could do. “My sister loved dancing and singing, Disney heartthrobs, trying on clothes, and anything pink or purple. She liked to catch her Bichon Frise, Sunny, in a bear hug and bury her face in the dog’s soft, cottony white coat. The disease working dark magic in her genes was all but invisible to most people,” writes Laura, who has also chronicled her sister’s decline in everyday observations. In the blog post “Between Haircuts,” for example, she documented the exact point when Taylor lost her ability to walk.

Over the past few years, the losses have continued. Taylor went from cane to walker to wheelchair. Her parents put in an elevator. Taylor relies on a feeding tube and has been hospitalized several times with intractable seizures.

Fighting

Back at the beginning, when Taylor’s world started to shift, her mother, Sharon, knew she had to act.

A diagnosis of a rare, devastating disease sends many family members into a paralyzing despair. Yet others will not stand for a “take her home and love her, there’s nothing we can do” message from medical professionals. I’ve had the privilege to write about many of them. That’s the group that Sharon and Laura belong to.

Inspired by the book The Cure, about a family’s fight against Pompe disease, which led to the film Extraordinary Measures, Sharon and Laura founded Taylor’s Tale with friends in 2006, not knowing if their efforts to fund research would be in time for Taylor. (I hope that my book on gene therapy has a similar effect.)

A critical point was when Sharon met a young and supremely talented researcher at the University of North Carolina, Steven Gray, whom she’d inspire to take on Taylor’s form of Batten disease. Dr. Gray indeed developed the delivery mechanism for a gene therapy for Taylor’s disease that is now in preclinical development at Abeona Therapeutics. The company received the FDA’s Rare Pediatric Disease Designation in March, which will speed development. “I believe seeing this treatment to the finish line equates to fulfilling the original promise we made when we founded Taylor’s Tale,” says Laura.

Taylor’s Tale also pushed for passage of 2015’s Taylor’s Law, establishing the nation’s first rare disease advisory council. North Carolina has a million rare disease patients.

Laura King Edwards ran the Thunder Road half marathon blindfolded, in honor of Taylor. Beside her is Steve Gray, who developed a gene therapy vector for Taylor’s disease.

Running Blind

Running has always helped Laura to cope, and so she’s racing in every state to raise awareness about Batten disease – sometimes, blindfolded. The idea, of course, came from her sister.

“When Taylor was 10, in the fifth grade, she was dealing with a number of symptoms, including being almost totally blind. One day early in the school year, Girls on the Run came to her school. They are an international organization, founded in Charlotte, of younger girls who, through running, learn how to believe in themselves and form a strong team. They develop self-esteem by running a 5k race by the end of the semester,” recalls Laura.

Taylor not only signed up, but became her team’s leader, convincing her friends to sing songs and focus on running rather than chattering about boys and parties. They were training for the 5k race in December 2008. Taylor trained tethered by a jump rope to a friend, but on race day, the family forgot the jump rope. “We had a moment of panic, and then we realized my husband had bungee cords in the car. Taylor ran with one of those! When you’re fighting a rare disease, you learn to improvise and make do with what you’ve got. Watching her crossing the finish line of that first 5K race is the most inspiring thing I’ve ever seen,” Laura says.

Laura had been a soccer player, but she took up running, and starting running races for Taylor the next year. In 2013, she ran a half-marathon blindfolded to mark the 5-year anniversary of Taylor’s first race, using the same bungee cord for luck. She’s run in 21 states so far for her little sister.

And on November 3, Laura will beat even that astounding accomplishment. She’ll be running the Charlotte half marathon blindfolded – just six weeks after the arrival of her and John’s son, Jack. I’ll be there and finally meet Taylor! Happy birthday!

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Ricki Lewis is a science writer with a PhD in genetics. The author of several textbooks and thousands of articles in scientific, medical, and consumer publications, Ricki's first narrative nonfiction book, "The Forever Fix: Gene Therapy and the Boy Who Saved It," was published by St. Martin's Press in March 2012. In addition to writing, Ricki provides genetic counseling for parents-to-be at CareNet Medical Group in Schenectady, NY and teaches "Genethics" an online course for master's degree students at the Alden March Bioethics Institute of Albany Medical Center.